ArticleEuropean journal of human genetics : EJHG2016
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Massive-scale single-nucleus multi-omics identifies novel rare noncoding drivers of Parkinson's disease.bioRxiv : the preprint server for biology · 2026Article
- Metabolomic Signatures of Prediabetes in Mexican Americans: The Role of Genetics and Macronutrients.Advanced genetics (Hoboken, N.J.) · 2025Article
- Etiology of Borderline Intellectual Functioning.Journal of the Korean Academy of Child and Adolescent Psychiatry · 2024Article
- BLESS: bagged logistic regression for biomarker identification.Frontiers in genetics · 2024Article
- Bladder cancer intrinsic LRFN2 drives anticancer immunotherapy resistance by attenuating CD8Journal for immunotherapy of cancer · 2023Article
- Identification of candidate biomarkers and pathways associated with type 1 diabetes mellitus using bioinformatics analysis.Scientific reports · 2022Article
- Sorting nexin-27 regulates AMPA receptor trafficking through the synaptic adhesion protein LRFN2.eLife · 2021Article
- Dysregulation of erythropoiesis and altered erythroblastic NMDA receptor-mediated calcium influx in Lrfn2-deficient mice.PloS one · 2021Article
- Early Life Stress Alters Gene Expression and Cytoarchitecture in the Prefrontal Cortex Leading to Social Impairment and Increased Anxiety.Frontiers in genetics · 2021Article
- Interplay between genome-wide implicated genetic variants and environmental factors related to childhood antisocial behavior in the UK ALSPAC cohort.European archives of psychiatry and clinical neuroscience · 2019Article
- High-fidelity CRISPR/Cas9- based gene-specific hydroxymethylation rescues gene expression and attenuates renal fibrosis.Nature communications · 2018Article
- Lrfn2-Mutant Mice Display Suppressed Synaptic Plasticity and Inhibitory Synapse Development and Abnormal Social Communication and Startle Response.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Synaptic markers of cognitive decline in neurodegenerative diseases: a proteomic approach.Brain : a journal of neurology · 2018Article
- Genome-wide association study for multiple phenotype analysis.BMC proceedings · 2018Article
- SALM/Lrfn Family Synaptic Adhesion Molecules.Frontiers in molecular neuroscience · 2018Review
- Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice.Nature communications · 2017Article
Corrections and comments
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Authors and funding
24 authors at 7 institutions in 2 countries.
Funding
Abstract
Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients. The 870 kb microdeletion encompassed the brain-expressed gene LRFN2, which encodes for a synaptic cell adhesion molecule. Neuropsychological assessment identified selective working memory deficits, with borderline intellectual functioning. Further investigations identified a defect in executive function, and auditory-verbal processes. These data were consistent with brain MRI and FDG-PET functional brain imaging, which, when compared with controls, revealed abnormal brain volume and hypometabolism of gray matter structures implicated in working memory. We performed electron microscopy immunogold labeling demonstrating the localization of LRFN2 at synapses of cerebellar and hippocampal rat neurons, often associated with the NR1 subunit of N-methyl-D-aspartate receptors (NMDARs). Altogether, the combined approaches imply a role for LRFN2 in LD, specifically for working memory processes and executive function. In conclusion, the identification of familial cases of clinically homogeneous endophenotypes of LD might help in both the management of patients and genetic counseling for families.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.